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SV2C (synaptic vesicle glycoprotein 2C)

Identity

Other alias-
HGNC (Hugo) SV2C
LocusID (NCBI) 22987
Atlas_Id 54678
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 75379239 and ends at 75649764 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PPM1H (12q14.1) / SV2C (5q13.3)RAB11FIP1 (8p11.23) / SV2C (5q13.3)SKIV2L2 (5q11.2) / SV2C (5q13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SV2C   30670
Cards
Entrez_Gene (NCBI)SV2C  22987  synaptic vesicle glycoprotein 2C
Aliases
GeneCards (Weizmann)SV2C
Ensembl hg19 (Hinxton)ENSG00000122012 [Gene_View]  chr5:75379239-75649764 [Contig_View]  SV2C [Vega]
Ensembl hg38 (Hinxton)ENSG00000122012 [Gene_View]  chr5:75379239-75649764 [Contig_View]  SV2C [Vega]
ICGC DataPortalENSG00000122012
TCGA cBioPortalSV2C
AceView (NCBI)SV2C
Genatlas (Paris)SV2C
WikiGenes22987
SOURCE (Princeton)SV2C
Genetics Home Reference (NIH)SV2C
Genomic and cartography
GoldenPath hg19 (UCSC)SV2C  -     chr5:75379239-75649764 +  5q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SV2C  -     5q13.3   [Description]    (hg38-Dec_2013)
EnsemblSV2C - 5q13.3 [CytoView hg19]  SV2C - 5q13.3 [CytoView hg38]
Mapping of homologs : NCBISV2C [Mapview hg19]  SV2C [Mapview hg38]
OMIM610291   
Gene and transcription
Genbank (Entrez)AB028977 AK094917 AK094995 BC100824 BC100825
RefSeq transcript (Entrez)NM_001297716 NM_014979
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)SV2C
Cluster EST : UnigeneHs.663229 [ NCBI ]
CGAP (NCI)Hs.663229
Alternative Splicing GalleryENSG00000122012
Gene ExpressionSV2C [ NCBI-GEO ]   SV2C [ EBI - ARRAY_EXPRESS ]   SV2C [ SEEK ]   SV2C [ MEM ]
Gene Expression Viewer (FireBrowse)SV2C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22987
GTEX Portal (Tissue expression)SV2C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ496J9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ496J9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ496J9
Splice isoforms : SwissVarQ496J9
PhosPhoSitePlusQ496J9
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)5peptide_repeat    MFS    MFS_dom    MFS_sugar_transport_like    Sugar_transporter_CS    SV2   
Domain families : Pfam (Sanger)MFS_1 (PF07690)    Pentapeptide_4 (PF13599)    Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam07690    pfam13599    pfam00083   
Conserved Domain (NCBI)SV2C
DMDM Disease mutations22987
Blocks (Seattle)SV2C
PDB (SRS)4JRA   
PDB (PDBSum)4JRA   
PDB (IMB)4JRA   
PDB (RSDB)4JRA   
Structural Biology KnowledgeBase4JRA   
SCOP (Structural Classification of Proteins)4JRA   
CATH (Classification of proteins structures)4JRA   
SuperfamilyQ496J9
Human Protein AtlasENSG00000122012
Peptide AtlasQ496J9
HPRD18753
IPIIPI00173947   IPI00965874   
Protein Interaction databases
DIP (DOE-UCLA)Q496J9
IntAct (EBI)Q496J9
FunCoupENSG00000122012
BioGRIDSV2C
STRING (EMBL)SV2C
ZODIACSV2C
Ontologies - Pathways
QuickGOQ496J9
Ontology : AmiGOplasma membrane  neurotransmitter transport  synaptic vesicle  integral component of membrane  transmembrane transporter activity  cell junction  synaptic vesicle membrane  transmembrane transport  
Ontology : EGO-EBIplasma membrane  neurotransmitter transport  synaptic vesicle  integral component of membrane  transmembrane transporter activity  cell junction  synaptic vesicle membrane  transmembrane transport  
Pathways : KEGGECM-receptor interaction   
NDEx NetworkSV2C
Atlas of Cancer Signalling NetworkSV2C
Wikipedia pathwaysSV2C
Orthology - Evolution
OrthoDB22987
GeneTree (enSembl)ENSG00000122012
Phylogenetic Trees/Animal Genes : TreeFamSV2C
HOVERGENQ496J9
HOGENOMQ496J9
Homologs : HomoloGeneSV2C
Homology/Alignments : Family Browser (UCSC)SV2C
Gene fusions - Rearrangements
Fusion : MitelmanPPM1H/SV2C [12q14.1/5q13.3]  [t(5;12)(q13;q14)]  
Fusion : MitelmanSKIV2L2/SV2C [5q11.2/5q13.3]  [t(5;5)(q11;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSV2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SV2C
dbVarSV2C
ClinVarSV2C
1000_GenomesSV2C 
Exome Variant ServerSV2C
ExAC (Exome Aggregation Consortium)SV2C (select the gene name)
Genetic variants : HAPMAP22987
Genomic Variants (DGV)SV2C [DGVbeta]
DECIPHER (Syndromes)5:75379239-75649764  ENSG00000122012
CONAN: Copy Number AnalysisSV2C 
Mutations
ICGC Data PortalSV2C 
TCGA Data PortalSV2C 
Broad Tumor PortalSV2C
OASIS PortalSV2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSV2C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSV2C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SV2C
DgiDB (Drug Gene Interaction Database)SV2C
DoCM (Curated mutations)SV2C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SV2C (select a term)
intoGenSV2C
Cancer3DSV2C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610291   
Orphanet
MedgenSV2C
Genetic Testing Registry SV2C
NextProtQ496J9 [Medical]
TSGene22987
GENETestsSV2C
Huge Navigator SV2C [HugePedia]
snp3D : Map Gene to Disease22987
BioCentury BCIQSV2C
ClinGenSV2C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22987
Chemical/Pharm GKB GenePA134888452
Clinical trialSV2C
Miscellaneous
canSAR (ICR)SV2C (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSV2C
EVEXSV2C
GoPubMedSV2C
iHOPSV2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:29:59 CET 2017

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